(Q74484638)

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Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

scientific article published on 01 September 2001

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

H Takashima

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

C F Boerkoel

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J R Lupski

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 September 2001

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Genetics in Medicine

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

335-342

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545686%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Beginning of a molecular era in hearing and deafness

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00002

21 January 2018

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1 reference

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21 January 2018

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

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21 January 2018

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

1 reference

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21 January 2018

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2

1 reference

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21 January 2018

Current methods of mutation detection

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00002

21 January 2018

Canine hereditary ceroid-lipofuscinosis: evidence for a defect in the carnitine biosynthetic pathway

1 reference

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21 January 2018

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1 reference

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21 January 2018

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

1 reference

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21 January 2018

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00002

21 January 2018

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00002

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00002

21 January 2018

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